PT  - JOURNAL ARTICLE
AU  - Ishikawa, H.
AU  - Sugie, K.
AU  - Murayama, K.
AU  - Ito, M.
AU  - Minami, N.
AU  - Nishino, I.
AU  - Nonaka, I.
TI  - Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness
AID  - 10.1212/WNL.59.6.920
DP  - 2002 Sep 24
TA  - Neurology
PG  - 920--923
VI  - 59
IP  - 6
4099  - http://n.neurology.org/content/59/6/920.short
4100  - http://n.neurology.org/content/59/6/920.full
SO  - Neurology2002 Sep 24; 59
AB  - Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The authors report on a boy with Ullrich disease who has complete deficiency of collagen VI and harbors compound heterozygous mutations in the collagen VI alpha 2 gene. Absence of microfibrils on EM, together with normal collagen fibrils and basal lamina, suggests that loss of a link between interstitium and basal lamina may be a new molecular pathomechanism of muscular dystrophy.